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Resources about MCADD for Metabolic Disease Awareness Week

June 23 – 29 is Metabolic Disease Awareness Week. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, metabolic genetic condition in which a person has problems breaking down fatty acids for energy. MCADD is an inherited condition which affects about 1 in 10,000 babies born in the UK. The National Genetics Education and Development Centre has developed several e-learning resources about MCADD.

Background

MCADD is an autosomal recessive condition which results from an alteration in the ACADM gene. Babies with MCADD have problems breaking down fats to make energy for the body. This can lead to serious illness, or even death. Screening means that most babies who have MCADD can be recognised early, allowing special attention to be given to their diet, including making sure they eat regularly. This care can prevent serious illness and allow babies with MCADD to develop normally. Screening babies for MCADD is important, so those with the condition can be identified before they become suddenly and seriously ill.